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Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.
van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM. van Overveld PG, et al. Among authors: van der maarel sm. Ann Neurol. 2005 Oct;58(4):569-76. doi: 10.1002/ana.20625. Ann Neurol. 2005. PMID: 16178028
Facioscapulohumeral muscular dystrophy.
Tawil R, Van Der Maarel SM. Tawil R, et al. Among authors: van der maarel sm. Muscle Nerve. 2006 Jul;34(1):1-15. doi: 10.1002/mus.20522. Muscle Nerve. 2006. PMID: 16508966 Review.
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM. de Greef JC, et al. Among authors: van der maarel sm. Neurology. 2007 Sep 4;69(10):1018-26. doi: 10.1212/01.wnl.0000271391.44352.fe. Neurology. 2007. PMID: 17785671
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.
de Greef JC, Frants RR, van der Maarel SM. de Greef JC, et al. Among authors: van der maarel sm. Mutat Res. 2008 Dec 1;647(1-2):94-102. doi: 10.1016/j.mrfmmm.2008.07.011. Epub 2008 Aug 3. Mutat Res. 2008. PMID: 18723032 Free PMC article. Review.
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ. Snider L, et al. Among authors: van der maarel sm. Hum Mol Genet. 2009 Jul 1;18(13):2414-30. doi: 10.1093/hmg/ddp180. Epub 2009 Apr 9. Hum Mol Genet. 2009. PMID: 19359275 Free PMC article.
260 results